×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA116977833
Gene: IL7R
HGNC
NCBI
Linked Data
dbSNP Id:
rs994787537
gnomAD v3:
5-35877835-A-T
gnomAD v4:
5-35877835-A-T
MyVariant Identifiers:
chr5:g.35877937A>T (hg19)
chr5:g.35877835A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.35877835A>T , CM000667.2:g.35877835A>T
GRCh38
NC_000005.9:g.35877937A>T , CM000667.1:g.35877937A>T
GRCh37
NC_000005.8:g.35913694A>T
NCBI36
NG_009567.1:g.25947A>T , LRG_74:g.25947A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000303115.8:c.*1349A>T
MANE Select
ENSP00000306157.3:n.*1349A>T
ENST00000303115.7:c.*1349A>T
ENSP00000306157.3:n.*1349A>T
NM_002185.3:c.*1349A>T
NP_002176.2:n.*1349A>T
NR_120485.1:n.2569A>T
NM_002185.4:c.*1349A>T
NP_002176.2:n.*1349A>T
NR_120485.2:n.2595A>T
XM_005248299.4:c.*1846A>T
XP_005248356.1:n.*1846A>T
NM_002185.5:c.*1349A>T
MANE Select
NP_002176.2:n.*1349A>T
NR_120485.3:n.2553A>T
Search 100 bp 5'
Search 100 bp 3'